Mutagenetix > Incidental Mutation

Incidental Mutation 'R4648:Dcaf1'

350495

Institutional Source

Beutler Lab

Gene Symbol

Dcaf1

Ensembl Gene

ENSMUSG00000040325

Gene Name

DDB1 and CUL4 associated factor 1

Synonyms

B930007L02Rik, Vprbp

MMRRC Submission

041909-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4648 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

106699073-106758191 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to T at 106742876 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055009] [ENSMUST00000159645] [ENSMUST00000161758]

AlphaFold

Q80TR8

Predicted Effect

unknown
Transcript: ENSMUST00000055009
AA Change: D1396V

SMART Domains

Protein: ENSMUSP00000060025
Gene: ENSMUSG00000040325
AA Change: D1396V

Domain	Start	End	E-Value	Type
low complexity region	175	191	N/A	INTRINSIC
low complexity region	201	212	N/A	INTRINSIC
low complexity region	591	605	N/A	INTRINSIC
LisH	845	877	1.77e-3	SMART
low complexity region	920	945	N/A	INTRINSIC
PDB:4PXW\|B	1038	1392	N/A	PDB
SCOP:d1tbga_	1063	1375	9e-20	SMART
Blast:WD40	1078	1120	3e-22	BLAST
Blast:WD40	1123	1164	7e-19	BLAST
low complexity region	1393	1452	N/A	INTRINSIC
low complexity region	1457	1483	N/A	INTRINSIC
PDB:4P7I\|D	1484	1506	2e-6	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000159620

SMART Domains

Protein: ENSMUSP00000123907
Gene: ENSMUSG00000032575

Domain	Start	End	E-Value	Type
Pfam:Armet	18	120	1.7e-44	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000159645
AA Change: D1396V

SMART Domains

Protein: ENSMUSP00000123865
Gene: ENSMUSG00000040325
AA Change: D1396V

Domain	Start	End	E-Value	Type
low complexity region	175	191	N/A	INTRINSIC
low complexity region	201	212	N/A	INTRINSIC
low complexity region	591	605	N/A	INTRINSIC
LisH	845	877	1.77e-3	SMART
low complexity region	920	945	N/A	INTRINSIC
PDB:4PXW\|B	1038	1394	N/A	PDB
SCOP:d1tbga_	1063	1375	1e-19	SMART
Blast:WD40	1078	1120	2e-22	BLAST
Blast:WD40	1123	1164	7e-19	BLAST
low complexity region	1395	1402	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000161272

SMART Domains

Protein: ENSMUSP00000125424
Gene: ENSMUSG00000032575

Domain	Start	End	E-Value	Type
Pfam:Armet	1	51	2.5e-21	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000161758
AA Change: D1402V

SMART Domains

Protein: ENSMUSP00000125730
Gene: ENSMUSG00000040325
AA Change: D1402V

Domain	Start	End	E-Value	Type
low complexity region	175	191	N/A	INTRINSIC
low complexity region	201	212	N/A	INTRINSIC
low complexity region	591	605	N/A	INTRINSIC
LisH	845	877	1.77e-3	SMART
low complexity region	920	945	N/A	INTRINSIC
PDB:4PXW\|B	1038	1398	N/A	PDB
SCOP:d1tbga_	1063	1308	3e-19	SMART
Blast:WD40	1078	1120	3e-22	BLAST
Blast:WD40	1123	1164	7e-19	BLAST
low complexity region	1399	1458	N/A	INTRINSIC
low complexity region	1463	1489	N/A	INTRINSIC
PDB:4P7I\|D	1490	1512	2e-6	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193626

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Embryos homozygous for a knock-out allele die prior to E7.5. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700031F05Rik	G	T	X: 101,904,515 (GRCm39)	N132K	possibly damaging	Het
2010315B03Rik	T	A	9: 124,056,228 (GRCm39)	Y232F	probably benign	Het
2310079G19Rik	T	C	16: 88,424,255 (GRCm39)	S79G	probably benign	Het
4930568D16Rik	T	A	2: 35,244,458 (GRCm39)	Y298F	probably damaging	Het
Alpk2	A	G	18: 65,482,953 (GRCm39)	F352L	probably damaging	Het
Angpt1	T	A	15: 42,539,580 (GRCm39)	Y93F	probably benign	Het
Ankrd33b	T	C	15: 31,325,170 (GRCm39)	*129W	probably null	Het
Atp5pf	T	C	16: 84,625,343 (GRCm39)	M87V	probably benign	Het
Atp8b3	A	G	10: 80,361,457 (GRCm39)	S822P	possibly damaging	Het
Bbs10	A	G	10: 111,136,995 (GRCm39)	K703E	probably benign	Het
Bbs2	A	T	8: 94,807,507 (GRCm39)	V429E	probably damaging	Het
Bccip	C	T	7: 133,316,628 (GRCm39)	L83F	probably damaging	Het
Brd9	G	A	13: 74,088,895 (GRCm39)	V198I	probably benign	Het
C1galt1c1	A	T	X: 37,720,349 (GRCm39)	S216T	probably benign	Het
Calhm1	A	G	19: 47,132,240 (GRCm39)	L125P	probably damaging	Het
Ccdc110	A	T	8: 46,395,705 (GRCm39)	Q532L	possibly damaging	Het
Cdh19	G	A	1: 110,852,907 (GRCm39)	L343F	probably benign	Het
Cep350	A	G	1: 155,778,344 (GRCm39)	S1653P	possibly damaging	Het
Cmtm4	A	G	8: 105,082,952 (GRCm39)	I135T	possibly damaging	Het
Cmya5	A	G	13: 93,230,336 (GRCm39)	L1584P	possibly damaging	Het
Crocc2	G	A	1: 93,096,516 (GRCm39)	V24M	possibly damaging	Het
Crp	A	G	1: 172,525,704 (GRCm39)	M1V	probably null	Het
Csmd1	G	A	8: 16,048,788 (GRCm39)	Q2305*	probably null	Het
Cyp2c38	T	A	19: 39,449,132 (GRCm39)	I74F	probably benign	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dhx16	C	G	17: 36,196,527 (GRCm39)	A565G	probably benign	Het
Dock7	C	A	4: 98,857,881 (GRCm39)	E1448*	probably null	Het
Dpf2	C	T	19: 5,957,109 (GRCm39)	R38H	probably damaging	Het
E030030I06Rik	T	A	10: 22,024,744 (GRCm39)	R56S	unknown	Het
Etnk1	A	G	6: 143,141,000 (GRCm39)	Y248C	probably damaging	Het
Ext1	A	G	15: 52,953,383 (GRCm39)	S494P	possibly damaging	Het
Gk2	T	C	5: 97,603,579 (GRCm39)	S420G	probably benign	Het
Gm26596	T	C	10: 112,765,064 (GRCm39)		probably benign	Het
Gm5414	G	T	15: 101,536,543 (GRCm39)	N27K	possibly damaging	Het
Gskip	A	G	12: 105,664,988 (GRCm39)	D9G	probably benign	Het
H2-K2	T	A	17: 34,194,989 (GRCm39)		noncoding transcript	Het
Hk1	T	G	10: 62,140,558 (GRCm39)	S105R	probably benign	Het
Hmg20b	T	A	10: 81,184,416 (GRCm39)	Q129L	probably damaging	Het
Idnk	A	G	13: 58,310,683 (GRCm39)	D67G	probably benign	Het
Igfbp5	G	T	1: 72,903,222 (GRCm39)	H118N	probably benign	Het
Irf4	A	T	13: 30,947,580 (GRCm39)	Y427F	probably benign	Het
Khdc3	A	G	9: 73,009,868 (GRCm39)	E26G	possibly damaging	Het
Kif7	T	C	7: 79,358,939 (GRCm39)	D512G	probably damaging	Het
Lamb3	T	A	1: 193,013,665 (GRCm39)	I513N	probably damaging	Het
Lipo3	A	G	19: 33,760,860 (GRCm39)	L174P	probably damaging	Het
Lnx1	C	T	5: 74,771,457 (GRCm39)	V350I	probably benign	Het
Map3k21	A	G	8: 126,668,850 (GRCm39)	D812G	probably benign	Het
Mast2	G	T	4: 116,172,036 (GRCm39)	Y637*	probably null	Het
Matn2	T	C	15: 34,428,679 (GRCm39)	I681T	probably damaging	Het
Med18	A	T	4: 132,190,274 (GRCm39)	V37D	possibly damaging	Het
Mip	T	A	10: 128,062,922 (GRCm39)	H122Q	probably benign	Het
Mmp13	A	T	9: 7,274,233 (GRCm39)	D180V	probably damaging	Het
Mpg	C	A	11: 32,180,034 (GRCm39)	C187*	probably null	Het
Mtmr14	A	G	6: 113,237,567 (GRCm39)	E256G	probably benign	Het
Myo7b	C	T	18: 32,100,178 (GRCm39)		probably null	Het
Nhsl3	G	T	4: 129,115,733 (GRCm39)	T977K	probably benign	Het
Nmt1	T	A	11: 102,954,743 (GRCm39)	V425D	probably damaging	Het
Nynrin	T	A	14: 56,110,351 (GRCm39)	Y1819*	probably null	Het
Or10ak16	A	G	4: 118,751,147 (GRCm39)	N289S	possibly damaging	Het
Or4c107	T	A	2: 88,789,556 (GRCm39)	F249I	probably damaging	Het
Or5i1	T	C	2: 87,613,565 (GRCm39)	V227A	possibly damaging	Het
Otof	T	C	5: 30,540,914 (GRCm39)	E875G	possibly damaging	Het
Paqr3	T	A	5: 97,256,069 (GRCm39)	R102*	probably null	Het
Phc1	T	C	6: 122,298,872 (GRCm39)	I699V	possibly damaging	Het
Prkdc	T	G	16: 15,634,638 (GRCm39)	D3594E	probably benign	Het
Pstpip1	A	T	9: 56,032,502 (GRCm39)	D246V	probably damaging	Het
Rbm46	A	T	3: 82,771,765 (GRCm39)	D283E	probably benign	Het
Ror2	A	T	13: 53,439,536 (GRCm39)	C9*	probably null	Het
Setd1b	C	T	5: 123,286,175 (GRCm39)	A407V	unknown	Het
Slc26a4	T	G	12: 31,590,525 (GRCm39)	D376A	possibly damaging	Het
Smarcad1	A	G	6: 65,044,073 (GRCm39)	E215G	probably benign	Het
Spag16	G	A	1: 69,866,194 (GRCm39)	R11Q	probably null	Het
Sult1d1	T	A	5: 87,713,954 (GRCm39)	Q30L	probably benign	Het
Tbc1d5	A	G	17: 51,043,251 (GRCm39)	C746R	probably benign	Het
Tdh	A	G	14: 63,731,205 (GRCm39)	L323P	possibly damaging	Het
Tet2	A	T	3: 133,193,843 (GRCm39)	M197K	probably benign	Het
Tnn	T	C	1: 159,973,612 (GRCm39)	M252V	probably benign	Het
Trdn	G	T	10: 33,071,977 (GRCm39)	E215*	probably null	Het
Trem1	G	A	17: 48,551,590 (GRCm39)	V84I	probably benign	Het
Tspan5	T	C	3: 138,604,076 (GRCm39)	F154L	probably damaging	Het
Usp45	A	G	4: 21,825,044 (GRCm39)	R647G	probably benign	Het
Usp50	T	A	2: 126,619,953 (GRCm39)	I120F	probably damaging	Het
Vil1	T	C	1: 74,471,457 (GRCm39)	M746T	probably benign	Het
Washc4	T	A	10: 83,410,407 (GRCm39)	M665K	possibly damaging	Het
Zfp750	T	C	11: 121,402,706 (GRCm39)	T681A	probably benign	Het

Other mutations in Dcaf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00773:Dcaf1	APN	9	106,735,532 (GRCm39)	missense	probably benign	0.45
IGL01314:Dcaf1	APN	9	106,711,390 (GRCm39)	missense	probably benign	0.07
IGL01395:Dcaf1	APN	9	106,735,361 (GRCm39)	missense	possibly damaging	0.73
IGL01936:Dcaf1	APN	9	106,736,800 (GRCm39)	missense	possibly damaging	0.81
IGL02089:Dcaf1	APN	9	106,740,310 (GRCm39)	missense	probably benign	0.40
IGL02596:Dcaf1	APN	9	106,740,220 (GRCm39)	missense	probably damaging	1.00
IGL02828:Dcaf1	APN	9	106,721,501 (GRCm39)	splice site	probably benign
IGL03036:Dcaf1	APN	9	106,721,339 (GRCm39)	missense	probably damaging	1.00
IGL03327:Dcaf1	APN	9	106,735,823 (GRCm39)	missense	possibly damaging	0.79
Americano	UTSW	9	106,757,158 (GRCm39)	nonsense	probably null
Latte	UTSW	9	106,723,971 (GRCm39)	nonsense	probably null
IGL02799:Dcaf1	UTSW	9	106,735,139 (GRCm39)	missense	probably benign	0.42
P0023:Dcaf1	UTSW	9	106,737,650 (GRCm39)	missense	probably benign	0.40
R0087:Dcaf1	UTSW	9	106,740,288 (GRCm39)	missense	probably damaging	1.00
R0164:Dcaf1	UTSW	9	106,721,344 (GRCm39)	missense	possibly damaging	0.94
R0164:Dcaf1	UTSW	9	106,721,344 (GRCm39)	missense	possibly damaging	0.94
R0562:Dcaf1	UTSW	9	106,721,321 (GRCm39)	splice site	probably benign
R0690:Dcaf1	UTSW	9	106,723,848 (GRCm39)	splice site	probably benign
R1373:Dcaf1	UTSW	9	106,735,079 (GRCm39)	missense	probably benign	0.18
R1508:Dcaf1	UTSW	9	106,731,376 (GRCm39)	missense	probably damaging	1.00
R1765:Dcaf1	UTSW	9	106,741,793 (GRCm39)	missense	probably damaging	1.00
R1845:Dcaf1	UTSW	9	106,729,161 (GRCm39)	missense	probably benign	0.01
R2016:Dcaf1	UTSW	9	106,716,287 (GRCm39)	missense	probably benign	0.41
R2017:Dcaf1	UTSW	9	106,725,122 (GRCm39)	missense	probably damaging	0.99
R2017:Dcaf1	UTSW	9	106,716,287 (GRCm39)	missense	probably benign	0.41
R2246:Dcaf1	UTSW	9	106,731,376 (GRCm39)	missense	possibly damaging	0.94
R2321:Dcaf1	UTSW	9	106,715,672 (GRCm39)	missense	probably benign	0.04
R4528:Dcaf1	UTSW	9	106,721,403 (GRCm39)	missense	probably damaging	1.00
R4646:Dcaf1	UTSW	9	106,724,006 (GRCm39)	missense	probably benign	0.27
R4742:Dcaf1	UTSW	9	106,735,754 (GRCm39)	missense	probably benign	0.00
R5876:Dcaf1	UTSW	9	106,740,849 (GRCm39)	missense	probably damaging	1.00
R5926:Dcaf1	UTSW	9	106,715,561 (GRCm39)	missense	probably benign	0.02
R6057:Dcaf1	UTSW	9	106,731,446 (GRCm39)	missense	probably damaging	0.99
R6335:Dcaf1	UTSW	9	106,715,845 (GRCm39)	missense	possibly damaging	0.63
R6518:Dcaf1	UTSW	9	106,712,788 (GRCm39)	missense	probably damaging	1.00
R6812:Dcaf1	UTSW	9	106,735,268 (GRCm39)	missense	probably damaging	1.00
R6829:Dcaf1	UTSW	9	106,715,803 (GRCm39)	missense	probably damaging	0.97
R6972:Dcaf1	UTSW	9	106,723,971 (GRCm39)	nonsense	probably null
R7175:Dcaf1	UTSW	9	106,735,775 (GRCm39)	missense	probably benign	0.32
R7650:Dcaf1	UTSW	9	106,715,543 (GRCm39)	missense	probably benign	0.01
R7734:Dcaf1	UTSW	9	106,715,878 (GRCm39)	missense	probably damaging	1.00
R8179:Dcaf1	UTSW	9	106,735,115 (GRCm39)	missense	probably damaging	1.00
R8230:Dcaf1	UTSW	9	106,735,914 (GRCm39)	missense	probably damaging	0.99
R8247:Dcaf1	UTSW	9	106,731,427 (GRCm39)	missense	possibly damaging	0.51
R8440:Dcaf1	UTSW	9	106,725,073 (GRCm39)	missense	possibly damaging	0.94
R8543:Dcaf1	UTSW	9	106,735,277 (GRCm39)	missense	probably benign	0.06
R8674:Dcaf1	UTSW	9	106,740,896 (GRCm39)	missense	probably damaging	1.00
R8728:Dcaf1	UTSW	9	106,724,005 (GRCm39)	missense	possibly damaging	0.92
R8807:Dcaf1	UTSW	9	106,742,268 (GRCm39)	missense	probably benign	0.05
R8883:Dcaf1	UTSW	9	106,724,839 (GRCm39)	intron	probably benign
R8953:Dcaf1	UTSW	9	106,735,542 (GRCm39)	missense	possibly damaging	0.66
R9018:Dcaf1	UTSW	9	106,742,836 (GRCm39)	missense	probably damaging	1.00
R9113:Dcaf1	UTSW	9	106,712,831 (GRCm39)	splice site	probably benign
R9300:Dcaf1	UTSW	9	106,725,042 (GRCm39)	missense	possibly damaging	0.92
R9414:Dcaf1	UTSW	9	106,757,158 (GRCm39)	nonsense	probably null
R9428:Dcaf1	UTSW	9	106,735,528 (GRCm39)	missense	possibly damaging	0.52
R9486:Dcaf1	UTSW	9	106,735,916 (GRCm39)	missense	possibly damaging	0.88
R9685:Dcaf1	UTSW	9	106,713,818 (GRCm39)	missense	probably benign	0.01
R9700:Dcaf1	UTSW	9	106,735,524 (GRCm39)	missense	probably benign	0.01
R9760:Dcaf1	UTSW	9	106,751,466 (GRCm39)	missense	unknown
X0019:Dcaf1	UTSW	9	106,711,358 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- AGGCATAACATTTTGAGTCAGCC -3'
(R):5'- TGACAGAGTAGCTTCCCTATCTC -3'

Sequencing Primer
(F):5'- CATTTTGAGTCAGCCAAGTAATTTTG -3'
(R):5'- AAGGTTCTGTATTAACAAAATTTCGC -3'

Posted On

2015-10-08